Dear all,

On behalf of IAGSA, we are pleased to inform you that an important research plan started in June 2010.

This project is called NIMBL (Nuclear Mediated Brain and Lupus-like conditions), is founded by the

EuropeanCommunity and it is coordinated by Prof. Y. Crow . C. Mondino Institute of Neurology in Pavia ,

and in particula the Unit of Child Neurology and Psychiatry, with the essential collaboration of the IAGSA,

will take part into this research plan which will last three years.


Many European countries and the United States will be involved in this project in order to better understand

the clinical, molecular and genetic aspects of some rare pathological conditions which share similar characteristics.

As result of  an alteration in the normal immunological response,  central nervous system is involved in the

majority of the pathologies included in the study,.Aicardi-Goutières syndrome is one among these conditions.


We think that this research study can be an important opportunity for medical doctors and international

researchersto collaborate and share their actual specific awareness of these pathologies, in order to better

understand the pathogenesis and eventually to delineate more accurate diagnostic criteria and, finally,

to find possible therapeutical strategies.


This project will include a clinical research study, thus the enrolment of patients is scheduled. 

As referral physicians for IAGSA, we ask you to consider the possibility for your son/daughter to participate

in the study. If you are interested and/or you want more information you simply need to  contact us for more

precise explanations and details.


For a brief abstract of the project you can  visit the site: .


Please before taking any decision, do not hesitate to contact us in order to have any explanation needed.

We are also available to inform your referring physician or paediatrician in order to provide any information

that can help you to decide.

We thank you in advance for your attention.

                                                                                                                              Best regards,

                                                                                                                             Prof. ssa E. Fazzi

                                                                                                             Dott.ssa S. Orcesi Dott.ssa I. Olivieri

                                                                                                                              IAGSA MD



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Phone : 0382380 – 280 (Mrs E. Botta, 11.30 am to  13.00 pm)





Aicardi-Goutières syndrome (AGS) and other pathologies like the adult onset Retinal Vasculopathy with

Leukodystrophy (RVCL) and  a cutaneous form of Systemic Lupus Erythematosus, called Familial

Chilblains Lupus (FCL) will be studied in the NIMBL project.


AGS is a genetically determined encephalopathy characterized by an inappropriate release of INF-α which

is probably responsible for the acute phase of the AGS clinical picture. Even though the enzymatic function

of the TREX1 protein and the RNaseH2 complex is not fully understood, both are undoubtedly involved in

the process of removing nucleic acid fragments produced as a result of normal cell cycles. When they do

not function properly, because of genetic mutation, fragments of nucleic acid will build up and can activate

the innate immune system that trigger the inappropriate release of INF-α.


The overlapping between AGS and other immunomediate pathologies addressed the interest

of researchers to better understand the pathogenesis and the clinical picture of these diseases, in order

to standardize the diagnostic criteria, the clinical follow up and possible therapeutical options.


Many different specialists will collaborate at different paths: clinical, immunological, genetics, basic

research; not only molecular studies will be conducted but also animal testing (on mice) that can lead

to develop animal models.


From a clinical point of view, the creation of a clinical registry will be very important. It will contain data

about patients diagnosed with the studied diseases and it can be helpful for storing all detailed information

about patients’ health status, clinical problems and reports of medical and instrumental examinations.


The collaboration between IAGSA and the families will be fundamental in this part of the project because

it will help the collection of clinical information to be complete and finally to better define the clinical picture 

and to make more specific phenotype-genotype correlations.


Clinical appointments for patients and families will be thus organized once a year: two will be held in

Europe (Pavia and Manchester) and one in the United States (Washington, DC). In these occasions

all the details and informations about research developments will be provided to the families.

Moreover, in the light of new potential discoveries, patients will be clinically re-examined in order to

standardize an examination protocol of follow up.


Contextually you will be proposed to collaborate in creating a blood sample data bank (plasma and serum)

which can be used for further studies on the pathogenesis of the syndrome. If you will agree,

a blood sample will be taken on the examined subject.


The participation in our research study is completely voluntary and free; every participant could

decide freely what kind of collaboration give. Every participant can also exit the study in every moment.